| Homo sapiens Gene: GRID2 | |||||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||||
| InnateDB Gene | IDBG-30249.6 | ||||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
| Gene Symbol | GRID2 | ||||||||||||||||||||||||
| Gene Name | glutamate receptor, ionotropic, delta 2 | ||||||||||||||||||||||||
| Synonyms | GluD2 | ||||||||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||||||||
| Ensembl Gene | ENSG00000152208 | ||||||||||||||||||||||||
| Encoded Proteins |
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
glutamate receptor, ionotropic, delta 2
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| Protein Structure | |||||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||||
| Summary |
Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. A point mutation in mouse GRID2, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This strongly suggests a role for GRID2 in neuronal apoptotic death. [provided by RefSeq, Jul 2008] The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named \'lurcher\', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014] |
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| Gene Information | |||||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||||
| Genomic Location | Chromosome 4:92304399-93774556 | ||||||||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||||||||
| Band | q22.1 | ||||||||||||||||||||||||
| Transcripts | |||||||||||||||||||||||||
| Interactions | |||||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||||
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Species
Mus musculus
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Gene ID
Gene Order
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| Pathways | |||||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||||
| REACTOME | |||||||||||||||||||||||||
| KEGG |
Neuroactive ligand-receptor interaction pathway
Long-term depression pathway
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| Cross-References | |||||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||||
| UniGene | Hs.162727 Hs.480281 | ||||||||||||||||||||||||
| RefSeq | NM_001286838 NM_001510 | ||||||||||||||||||||||||
| HUGO | |||||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||||
| CCDS | CCDS3637 CCDS68758 | ||||||||||||||||||||||||
| HPRD | 06781 | ||||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||||||||